Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.

Biochimica et biophysica acta - 1 Aug 2014

Burtscher Verena, Schicker Klaus, Novikova Elena, Pöhn Birgit, Stockner Thomas, Kugler Christof, Singh Anamika, Zeitz Christina, Lancelot Marie-Elise, Audo Isabelle, Leroy Bart Peter, Freissmuth Michael, Herzig Stefan, Matthes Jan, Koschak Alexandra

Abstract excerpt

Defective retinal synaptic transmission in patients affected with congenital stationary night blindness type 2 (CSNB2) can result from different dysfunction phenotypes in Cav1.4 L-type calcium channels. Here we investigated two prototypical Cav1.4 variants from either end of the functional spectrum. Using whole-cell and single-channel patch-clamp techniques, we provide analysis of the biophysical characteristics...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium
Share to Calcium Channels, L-Type

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Genetic Diseases, X-Linked

Share to Immunoblotting

Share to Myopia

Share to Night Blindness

Share to Patch-Clamp Techniques

Source

Open in PubMed Open full text

Identifiers

PMID: 24796500
DOI: 10.1016/j.bbamem.2014.04.023
PMCID: PMC4065569

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.PMID 24796500Read ↗

Cav1.4 dysfunction and congenital stationary night blindness type 2.Semantic proximity Read ↗

Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.Semantic proximity Read ↗

Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels.Semantic proximity Read ↗

Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.Semantic proximity Read ↗

Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels.Semantic proximity Read ↗

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.Semantic proximity Read ↗

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.Semantic proximity Read ↗

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.Semantic proximity Read ↗

TRPM1 mutations are associated with the complete form of congenital stationary night blindness.Semantic proximity Read ↗

Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.Semantic proximity Read ↗

The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.Semantic proximity Read ↗

The Ca(v)1.4 calcium channel: more than meets the eye.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.